| 中國醫藥大學 |
2012-12 |
Partial trisomy 1q (1q42.13->qter) and partial monosomy 6q (6q27->qter) in a girl with single median maxillary central incisor, dysgenesis of corpus callosum and developmental delay
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);(Jun-Wei Su);(Chen-Chi Lee);(Wayseen Wang) |
| 中國醫藥大學 |
2012-12 |
De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yuan-Ling Huang);(Schu-Rern Chern);(Yu-Peng Liu);(Jun-Wei Su);(Chen-Chi Lee);(Wen-Lin Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2012-09 |
Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang) |
| 中國醫藥大學 |
2012-09 |
Partial monosomy 3p (3p26.2->pter) and partial trisomy 5q (5q34->qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Ming-Ren Chen);(Yi-Ning Su);(Schu-Rern Chern);(Yu-Peng Liu);(Jun-Wei Su);(Meng-Shan Lee);(Wayseen Wang) |
| 中國醫藥大學 |
2012-09 |
A de novo 4.4-Mb microdeletion in 2p24.3->p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Schu-Rern Chern);(Peih-Shan Wu);(Shuenn-Dyh Chang);(Shu-Hang Ng);(Yu-Peng Liu);(Jun-Wei Su);(Wayseen Wang) |
| 亞洲大學 |
2012-06 |
Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception
|
陳持平;Chen,Chih-Ping;Shuan-Pei Lin;Yi-Ning Su;Jian-Pei Huang;Schu-Rern Chern;Jun-Wei Su;Wayseen Wang |
| 中國醫藥大學 |
2012-06 |
Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Ming-Ren Chen);(Jun-Wei Su);(Schu-Rern Chern);(Yen-Jiun Chen);(Meng-Shan Lee);(Wayseen Wang) |
| 中國醫藥大學 |
2012-06 |
Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Chyong-Hsin Hsu);(Schu-Rern Chern);(Jun-Wei Su);(Yen-Jiun Chen);(Chen-Wen Pan);(Wayseen Wang) |
| 中國醫藥大學 |
2012-06 |
A de novo supernumerary marker chromosome derived from chromosome 9p (9p13.1->p23) associated with attention deficit and hyperactivity disorder
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Jun-Wei Su);(Dai-Dyi Town);(Wayseen Wang) |
| 中國醫藥大學 |
2012-06 |
Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Jun-Wei Su);(Meng-Shan Lee);(Wayseen Wang) |
| 中國醫藥大學 |
2012-06 |
Partial monosomy 9p (9p22.2->pter) and partial trisomy 18q (18q21.32->qter) in a female infant with anorectal malformations
|
陳持平(Chih-Ping Chen)*;(Hsien-Ming Lin);(Cheung Leung);(Shuan-Pei Lin);(Yi-Ning Su);(Jun-Wei Su);(Yu-Ting Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2012-06 |
Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);(Ming-Huei Lin);(Jun-Wei Su);(Wayseen Wang) |
| 中國醫藥大學 |
2012-06 |
Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Jian-Pei Huang);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang) |
| 中國醫藥大學 |
2012-06 |
Pure distal 9p deletion in a female infant with cerebral palsy
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Jun-Wei Su);(Schu-Rern Chern);(Dai-Dyi Town);(Wayseen Wang) |
| 中國醫藥大學 |
2012-03 |
Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Dar-Shong Lin);(Yu-Peng Liu);(Lee James Hsu);(Wayseen Wang) |
| 中國醫藥大學 |
2012-03 |
Rapid aneuploidy diagnosis of partial trisomy 7q (7q34->qter) and partial monosomy 10q (10q26.12->qter) by array comparative genomic hybridization using uncultured amniocytes
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Dai-Dyi Town);(Li-Feng Chen);(Meng-Shan Lee);(Wayseen Wang) |
| 中國醫藥大學 |
2011-12 |
Pure interstitial duplication of chromosome 7q (7q31.2->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and mental retardation
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Meng-Shan Lee);(Yen-Jiun Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2011-09 |
Self-injurious behavior associated with trisomy 9p (9p13.1->p24.3)
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Wen-Lin Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2011-09 |
Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Ming Chen);(Yi-Ning Su);(Schu-Rern Chern);(Tao-Yeuan Wang);(Yu-Peng Liu);蔡輔仁(Fuu-Jen Tsai);(Chen-Chi Lee);(Yen-Jiun Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2011-09 |
A 24.2-Mb deletion of 4q12->q21.21 characterized by array CGH in a 13?-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Li-Feng Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2011-09 |
Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Chen-Chi Lee);(Wayseen Wang) |
| 中國醫藥大學 |
2011-03 |
Congenital tracheal stenosis in a boy with the 22q13.3 deletion syndrome
|
陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); 蔡輔仁(Fuu-Jen Tsai); (Schu-Rern Chern); (Pei-Chen Wu); (Chen-Chi Lee); (Meng-Shan Lee); (Yu-Ting Chen); (Wayseen Wang) |
| 中國醫藥大學 |
2010-12 |
A 5.3-Mb duplication of 9p12->p13.1 characterized by array CGH in a female infant with developmental delay
|
陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); (Schu-Rern Chern); 蔡輔仁(Fuu-Jen Tsai); (Chen-Chi Lee); (Chen-Wen Pan); (Pei-Chen Wu); (Wayseen Wang) |
| 中國醫藥大學 |
2010-09 |
Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization
|
陳持平(Chih-Ping Chen)*; (Yung-Ting Guo); (Shuan-Pei Lin); (Yi-Ning Su); (Yann-Jang Chen); (Rui-Yuan Hseuh); (Yi-Hui Lin); (Pei-Chen Wu); (Chen-Chi Lee); (Yu-Ting Chen); (Wayseen Wang) |
| 中國醫藥大學 |
2010-09 |
Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses
|
陳持平(Chih-Ping Chen)*; (Yi-Ning Su); (Schu-Rern Chern); (Yu-Ming Hwu); (Shuan-Pei Lin); (Chyong-Hsin Hsu); 蔡輔仁(Fuu-Jen Tsai); (Tao-Yeuan Wang); (Pei-Chen Wu); (Chen-Chi Lee); (Yu-Ting Chen); (Li-Feng Chen); (Wayseen Wang) |
